View genomic variant #0000000160

Individual ID 00000152
Chromosome X
Allele Unknown
Affects function (reported) Not classified
Affects function (concluded) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.=
Published as Variant not detected.
Reference Rocha et al. (1999)
DB-ID AVPR2_000001
Frequency -
Variant remarks Variant not found on DGGE or sequence analysis.
Average frequency (large NGS studies) Genomic location of variant could not be determined
Owner LOVD




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AVPR2 NM_000054.4 ./. 1 c.= r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000153 DNA SEQ AVPR2 1 LOVD